Muscle channelopathies and related diseases
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Publisher
Elsevier
Reference14 articles.
1. Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder;Fontaine;Neurotherapeutics,2007
2. Electromyography guides toward subgroups of mutations in muscle channelopathies;Fournier;Ann Neurol,2004
3. Cold extends electromyography distinction between ion channel mutations causing myotonia;Fournier;Ann Neurol,2006
4. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene;Gay;Am J Med Genet A,2008
5. Physiological functions of CLC Cl−channels gleaned from human genetic disease and mouse models;Jentsch;Annu Rev Physiol,2005
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1. The Potential of Human Induced Pluripotent Stem Cells (hiPSCs) for the Study of Channelopathies: Advances and Future Directions;Advances in Pluripotent Stem Cells;2024-01-31
2. Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome;European Journal of Neurology;2022-05-04
3. Myopathic Disorders;Braddom's Physical Medicine and Rehabilitation;2021
4. A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs;Scientific Reports;2018-11-12
5. Congenital Myopathies and Related Diseases;Myopathology;2018-09-25
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